UniProtKB/SwissProt variant VAR

Caveolin-3
Gene: CAV3
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Variant information Variant position:

141
Type of variant:

LP/P [Disclaimer]
Residue change:

From Serine (S) to Arginine (R) at position 141 (S141R, p.Ser141Arg).
Physico-chemical properties:

Change from small size and polar (S) to large size and basic (R)
BLOSUM score:

-1
Variant description:

In LQT9; increase in late sodium current.
Other resources:

Variant rs104893713 [ dbSNP | Ensembl ]

Sequence information Variant position:

141
Protein sequence length:

151
Location on the sequence:

YSLCIRTFCNPLFAALGQVC S SIKVVLRKEV
Residue conservation:

Human                         YSLCIRTFCNPLFAALGQVCSSIKVVLRKEV

Mouse                         YSLCIRTFCNPLFAALGQVCSNIKVVLRREG

Rat                           YSLCIRTFCNPLFAALGQVCSNIKVVLRREG

Pig                           YSLCIRTFCNPVFAALGQVCSNIKVMLRKEV

Bovine                        YSLCIRTFCNPLFAALGQVCSNIKVMLRKEV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 151	Caveolin-3
Topological domain	105 – 151	Cytoplasmic

Literature citations
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M.; Ackerman M.J.; Ye B.; Makielski J.C.; Ughanze E.E.; Taylor E.W.; Tester D.J.; Balijepalli R.C.; Foell J.D.; Li Z.; Kamp T.J.; Towbin J.A.;
Circulation 114:2104-2112(2006)
Cited for: VARIANTS LQT9 MET-78; THR-85; CYS-97 AND ARG-141; VARIANTS SER-56 AND TRP-72; CHARACTERIZATION OF VARIANTS LQT9 CYS-97 AND ARG-141;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56539: Variant p.Ser141Arg